rs121908022
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908022(A;A) |
Make rs121908022(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 111836179 |
Gene | ALG9 |
is a | snp |
is | mentioned by |
dbSNP | rs121908022 |
dbSNP (classic) | rs121908022 |
ClinGen | rs121908022 |
ebi | rs121908022 |
HLI | rs121908022 |
Exac | rs121908022 |
Gnomad | rs121908022 |
Varsome | rs121908022 |
LitVar | rs121908022 |
Map | rs121908022 |
PheGenI | rs121908022 |
Biobank | rs121908022 |
1000 genomes | rs121908022 |
hgdp | rs121908022 |
ensembl | rs121908022 |
geneview | rs121908022 |
scholar | rs121908022 |
rs121908022 | |
pharmgkb | rs121908022 |
gwascentral | rs121908022 |
openSNP | rs121908022 |
23andMe | rs121908022 |
SNPshot | rs121908022 |
SNPdbe | rs121908022 |
MSV3d | rs121908022 |
GWAS Ctlg | rs121908022 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908022(A;A) |
Alt | rs121908022(A;A) |
Reference | Rs121908022(G;G) |
Significance | Pathogenic |
Disease | CONGENITAL DISORDER OF GLYCOSYLATION |
Variation | info |
Gene | ALG9 |
CLNDBN | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il |
Reversed | 1 |
HGVS | NC_000011.9:g.111706902C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003946.2, |